Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.A215V
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OXCT1

NM_000436.4:p.A215V

Associated Papers

From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models.

Capasso M et al.

Journal of Translational Medicine, 2024

38351008 (PubMed )
Supplement: 12967_2024_4954_MOESM2_ESM.xlsx › Table_S4

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

Zheng DJ et al.

Journal of Pediatric Intensive Care, 2018

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Shafqat N et al.

Journal of Inherited Metabolic Disease, 2013

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Fukao T et al.

Biochimica Et Biophysica Acta, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."